tag:blogger.com,1999:blog-7785493.post1686401959545917077..comments2016-12-10T03:10:00.431+02:00Comments on Dienekes’ Anthropology Blog: Review on germline mutation rate in humans (Campbell and Eichler 2013)Dienekeshttp://www.blogger.com/profile/02082684850093948970noreply@blogger.comBlogger1125tag:blogger.com,1999:blog-7785493.post-90526276135423194672013-05-24T01:14:00.925+03:002013-05-24T01:14:00.925+03:00There is still one major assumption about the geno...There is still one major assumption about the genome mutation rate that has not yet been supported with data. We are still assuming that all populations have the same genome mutation rate.<br /><br />In these direct analyses of whole genomes, 96 families have been analyzed. 85 are European, 1 is Sub-Saharan and 10 are not reported, but likely to be European. This represents a major gap in understanding. It will be very interesting to see the results from the final phase of the 1000 genomes project when they report on whole genome trio data for multiple families across diverse populations.<br /><br />There are a number of lines of evidence to suggest that there may be differences between populations on mutation frequency.<br /><br />1) The only data point from the YRI family that we have suggests that there is a 5-fold increase in mutation rate from the maternal YRI contribution relative to the CEU maternal contribution.<br /><br />2) Evidence suggests that the SNP : microsatellite mutation ratio is increased in Sub-Saharan populations relative to Eurasians. (This may suggest that SNP mutability is increased in Sub-Saharan Africans whereas microsatellite mutability may be more constant across populations)<br /><br />3) There is strong evidence that differences in PDRM9 between populations dramatically shifts recombination hotspots and linkage disequilibrium patterns across populations, why couldn&#39;t SNP mutations also differ across populations?<br /><br />4) There is evidence that the rates of de novo mutations are not uniform across the genome. This suggests there is a biological root cause for the appearance of germline mutations, if there are differences between populations in the enzymes involved in the biology of de novo mutations, wouldn&#39;t this also result in differences in the frequency or landscape of these mutations?<br /><br />There are many other reasons to suspect differences of mutation frequency between populations, but I think it is something that people don&#39;t like to discuss because it will mean going back to the drawing board on a number of critical assumptions that we have made about human history. Don&#39;t be surprised though when the final 1000 Genomes report comes out and it reveals a difference in mutation rate between populations.<br />Aaronhttp://www.blogger.com/profile/01270554253475715322noreply@blogger.com